Genotype-Based Asthma Treatment Improves Outcomes

A study1 presented at the European Respiratory Society International Congress suggested that personalizing treatment for children with asthma based on genetic characteristics may result in better outcomes across the board compared with standard care. The research comes in response to the finding that approximately 1 in 7 children possess a genetic difference that could cause standard treatment to exasperate their asthma symptoms.

The first-of-its-kind randomized controlled trial involved 241 children and teenagers, aged 12 to 18 years, who were all previously treated with inhaled corticosteroids. The participants were assigned to groups and were to randomly receive either treatment according to the existing standards of care (n = 120) or treatment based on their specific genotypes (n = 121).

The patients in the genetic differences group were asked to give a sample of cells scraped from the inside of their cheeks so the researchers could personalize their treatments. The researchers used these samples to examine the gene responsible for creating the beta-2 receptor. The researchers believe that differences in this gene were essential to how effectively asthma medications worked.

The children within the personalized treatment group who were found to have this genetic difference were treated with montelukast as opposed to the standard salmeterol.

For a year, the children used the Asthma Quality of Life Questionnaire (AQLQ) to to measure their symptoms, how their normal activities were impacted by their asthma, and how their asthma made them feel on a scale of 0 to 7.

Overall, personalized care resulted in a significant improvement of 0.16 (95%CI 0·00-0·31; p=0·049) to AQLQ scores compared with standard care. In children who had 2 copies of the altered beta-2 receptor gene, the researchers observed an average change in AQLQ score of 0.42 95%CI 0·02-0.81; p=0·041, compared with those undergoing standard care.

“The results are very promising because they show, for the first time, that it could be beneficial to test for certain genetic differences in children with asthma and select medication according to those differences,” said lead researcher Somnath Mukhopadhyay, chair in pediatrics at the Royal Alexandra Children’s hospital, in a press release2. “In this study, we saw only a modest effect, but this may be partly because the children’s asthma was generally very well controlled and only a few children experienced any serious symptoms during the 12-month period. Larger trials, with a focus on those with poorer asthma control, may help us determine the true benefit for children of prescribing in this way.”


— Leigh Precopio



  1. Ruffles T, Jones C, Palmer C, et al. Effect of controller prescribing according to rs1042713 genotype on asthma related quality of life in young people (PACT): a randomized controlled trial. Talk presented at European Respiratory Society International Congress; September 8, 2020; virtual.


  1. First trial of personalized care for children with asthma suggests benefits of prescribing according to genetic differences. News release. European Respiratory Society. September 8, 2020. Accessed September 8, 2020.